Linked Data
ClinVar Variation Id:
536762
dbSNP Id:
rs61734987
ExAC:
17:61787950 G / A
gnomAD v2:
17-61787950-G-A
gnomAD v3:
17-63710590-G-A
gnomAD v4:
17-63710590-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63710590G>A , CM000679.2:g.63710590G>A | GRCh38 |
| NC_000017.10:g.61787950G>A , CM000679.1:g.61787950G>A | GRCh37 |
| NC_000017.9:g.59141682G>A | NCBI36 |
| NG_015817.1:g.36381C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245865.10:c.308C>T | ENSP00000245865.5:p.Thr103Ile | |
| ENST00000336174.12:c.482C>T MANE Select | ENSP00000336655.6:p.Thr161Ile | |
| ENST00000375840.9:c.308C>T | ENSP00000365000.4:p.Thr103Ile | |
| ENST00000392950.9:c.371C>T | ENSP00000376677.4:p.Thr124Ile | |
| ENST00000447001.8:c.350C>T | ENSP00000398841.3:p.Thr117Ile | |
| ENST00000578008.6:c.395C>T | ENSP00000464547.2:p.Thr132Ile | |
| ENST00000578801.6:c.482C>T | ENSP00000463872.2:p.Thr161Ile | |
| ENST00000579318.2:n.805C>T | ||
| ENST00000579549.6:c.482C>T | ENSP00000462384.2:p.Thr161Ile | |
| ENST00000580039.6:c.285C>T | ||
| ENST00000581243.6:c.*410C>T | ENSP00000464085.1:n.*410C>T | |
| ENST00000581505.6:c.285C>T | ||
| ENST00000582137.6:c.395C>T | ENSP00000462922.1:p.Thr132Ile | |
| ENST00000638193.1:c.482C>T | ENSP00000491928.1:p.Thr161Ile | |
| ENST00000638276.1:c.308C>T | ENSP00000491922.1:p.Thr103Ile | |
| ENST00000638309.1:c.482C>T | ENSP00000492877.1:p.Thr161Ile | |
| ENST00000638578.1:n.354C>T | ||
| ENST00000638698.1:c.482C>T | ENSP00000491082.1:p.Thr161Ile | |
| ENST00000638702.1:c.308C>T | ENSP00000491017.1:p.Thr103Ile | |
| ENST00000638708.1:c.395C>T | ENSP00000491580.1:p.Thr132Ile | |
| ENST00000638718.1:c.308C>T | ENSP00000491868.1:p.Thr103Ile | |
| ENST00000638888.1:c.482C>T | ENSP00000491528.1:p.Thr161Ile | |
| ENST00000639135.1:c.371C>T | ENSP00000491843.1:p.Thr124Ile | |
| ENST00000639192.1:n.767C>T | ||
| ENST00000639521.1:c.371C>T | ENSP00000492087.1:p.Thr124Ile | |
| ENST00000639603.1:c.341C>T | ENSP00000491169.1:p.Thr114Ile | |
| ENST00000639835.1:c.371C>T | ENSP00000492578.1:p.Thr124Ile | |
| ENST00000640086.1:c.371C>T | ENSP00000492238.1:p.Thr124Ile | |
| ENST00000640174.1:c.458C>T | ENSP00000491380.1:p.Thr153Ile | |
| ENST00000640183.1:n.2075C>T | ||
| ENST00000640397.1:c.482C>T | ENSP00000492379.1:p.Thr161Ile | |
| ENST00000640679.1:c.482C>T | ENSP00000491092.1:p.Thr161Ile | |
| ENST00000640707.1:n.1033C>T | ||
| ENST00000640741.1:c.152C>T | ENSP00000491081.1:p.Thr51Ile | |
| ENST00000640827.1:c.482C>T | ENSP00000492499.1:p.Thr161Ile | |
| ENST00000640870.1:c.377C>T | ENSP00000492479.1:p.Thr126Ile | |
| ENST00000640979.1:c.308C>T | ENSP00000491485.1:p.Thr103Ile | |
| ENST00000640999.1:c.371C>T | ENSP00000491643.1:p.Thr124Ile | |
| ENST00000245865.9:c.308C>T | ENSP00000245865.5:p.Thr103Ile | |
| ENST00000336174.10:c.482C>T | ENSP00000336655.6:p.Thr161Ile | |
| ENST00000375840.8:c.308C>T | ENSP00000365000.4:p.Thr103Ile | |
| ENST00000392950.8:c.371C>T | ENSP00000376677.4:p.Thr124Ile | |
| ENST00000447001.7:c.350C>T | ENSP00000398841.3:p.Thr117Ile | |
| ENST00000577375.5:n.468C>T | ||
| ENST00000578008.5:c.98C>T | ENSP00000464547.1:p.Thr33Ile | |
| ENST00000578801.5:c.173C>T | ENSP00000463872.1:p.Thr58Ile | |
| ENST00000579340.5:c.308C>T | ENSP00000462530.1:p.Thr103Ile | |
| ENST00000580039.5:n.333C>T | ||
| ENST00000580553.1:c.659+138C>T | ||
| ENST00000581243.5:c.*410C>T | ENSP00000464085.1:n.*410C>T | |
| ENST00000581505.5:n.332C>T | ||
| ENST00000582137.5:c.395C>T | ENSP00000462922.1:p.Thr132Ile | |
| ENST00000617949.4:c.308C>T | ENSP00000481505.1:p.Thr103Ile | |
| NM_001003786.2:c.371C>T | NP_001003786.1:p.Thr124Ile | |
| NM_001003787.2:c.482C>T | NP_001003787.1:p.Thr161Ile | |
| NM_001003788.2:c.308C>T | NP_001003788.1:p.Thr103Ile | |
| NM_001165969.1:c.395C>T | NP_001159441.1:p.Thr132Ile | |
| NM_001165970.1:c.350C>T | NP_001159442.1:p.Thr117Ile | |
| NM_153335.5:c.371C>T | NP_699166.2:p.Thr124Ile | |
| XM_005257797.1:c.458C>T | XP_005257854.1:p.Thr153Ile | |
| XM_005257798.1:c.395C>T | XP_005257855.1:p.Thr132Ile | |
| XM_005257799.1:c.308C>T | XP_005257856.1:p.Thr103Ile | |
| XM_005257800.1:c.482C>T | XP_005257857.1:p.Thr161Ile | |
| XM_005257801.3:c.482C>T | XP_005257858.1:p.Thr161Ile | |
| XM_005257803.3:c.482C>T | XP_005257860.1:p.Thr161Ile | |
| XM_011525466.1:c.482C>T | XP_011523768.1:p.Thr161Ile | |
| XM_011525467.1:c.377C>T | XP_011523769.1:p.Thr126Ile | |
| XR_243687.1:n.631C>T | ||
| XR_243688.1:n.631C>T | ||
| NM_001003786.3:c.371C>T | NP_001003786.1:p.Thr124Ile | |
| NM_001003787.3:c.482C>T | NP_001003787.1:p.Thr161Ile | |
| NM_001003788.3:c.308C>T | NP_001003788.1:p.Thr103Ile | |
| NM_001165969.2:c.395C>T | NP_001159441.1:p.Thr132Ile | |
| NM_001165970.2:c.350C>T | NP_001159442.1:p.Thr117Ile | |
| NM_001363786.1:c.458C>T | NP_001350715.1:p.Thr153Ile | |
| NM_001363787.1:c.395C>T | NP_001350716.1:p.Thr132Ile | |
| NM_001363788.1:c.482C>T | NP_001350717.1:p.Thr161Ile | |
| NM_001363789.1:c.371C>T | NP_001350718.1:p.Thr124Ile | |
| NM_001363790.1:c.308C>T | NP_001350719.1:p.Thr103Ile | |
| NM_001363791.1:c.308C>T | NP_001350720.1:p.Thr103Ile | |
| NM_153335.6:c.371C>T | NP_699166.2:p.Thr124Ile | |
| NR_156741.1:n.772C>T | ||
| XM_005257799.3:c.308C>T | XP_005257856.1:p.Thr103Ile | |
| XM_005257801.5:c.482C>T | XP_005257858.1:p.Thr161Ile | |
| XM_005257803.5:c.482C>T | XP_005257860.1:p.Thr161Ile | |
| XM_011525466.3:c.482C>T | XP_011523768.1:p.Thr161Ile | |
| XM_011525467.3:c.377C>T | XP_011523769.1:p.Thr126Ile | |
| XM_017025314.2:c.395C>T | XP_016880803.1:p.Thr132Ile | |
| XR_243688.3:n.629C>T | ||
| NM_001003787.4:c.482C>T MANE Select | NP_001003787.1:p.Thr161Ile | |
| NR_156741.2:n.585C>T |