Linked Data
dbSNP Id:
rs200127446
ExAC:
3:47163723 G / T
gnomAD v2:
3-47163723-G-T
gnomAD v3:
3-47122233-G-T
gnomAD v4:
3-47122233-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47122233G>T , CM000665.2:g.47122233G>T | GRCh38 |
| NC_000003.11:g.47163723G>T , CM000665.1:g.47163723G>T | GRCh37 |
| NC_000003.10:g.47138727G>T | NCBI36 |
| NG_032091.1:g.46745C>A , LRG_775:g.46745C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638947.2:c.2271C>A | ENSP00000491413.2:p.Asn757Lys | |
| ENST00000685005.1:c.2304C>A | ENSP00000509568.1:p.Asn768Lys | |
| ENST00000685399.1:c.283C>A | ||
| ENST00000685505.1:c.344C>A | ||
| ENST00000686773.1:c.283C>A | ||
| ENST00000688290.1:c.283C>A | ||
| ENST00000690461.1:c.567C>A | ENSP00000509352.1:p.Asn189Lys | |
| ENST00000691544.1:c.72-24152C>A | ENSP00000510710.1:n.72-24152C>A | |
| ENST00000692883.1:c.344C>A | ||
| ENST00000693321.1:c.283C>A | ||
| ENST00000409792.4:c.2403C>A MANE Select | ENSP00000386759.3:p.Asn801Lys | |
| ENST00000330022.11:c.2018C>A | ||
| ENST00000409792.3:c.2403C>A | ENSP00000386759.3:p.Asn801Lys | |
| ENST00000412450.1:c.2271C>A | ENSP00000416401.1:p.Asn757Lys | |
| ENST00000431180.5:c.1555C>A | ||
| ENST00000445387.5:c.1303C>A | ||
| NM_014159.6:c.2403C>A , LRG_775t1:c.2403C>A | NP_054878.5:p.Asn801Lys | |
| XM_011533631.1:c.2481C>A | XP_011531933.1:p.Asn827Lys | |
| XM_011533632.1:c.2427C>A | XP_011531934.1:p.Asn809Lys | |
| XM_011533633.1:c.2481C>A | XP_011531935.1:p.Asn827Lys | |
| XM_011533634.1:c.2271C>A | XP_011531936.1:p.Asn757Lys | |
| XR_940418.1:n.2496C>A | ||
| XR_940419.1:n.2584C>A | ||
| XR_940420.1:n.2584C>A | ||
| NM_001349370.1:c.2271C>A | NP_001336299.1:p.Asn757Lys | |
| NR_146158.1:n.2456C>A | ||
| XM_011533632.3:c.2427C>A | XP_011531934.1:p.Asn809Lys | |
| XM_024453487.1:c.2271C>A | XP_024309255.1:p.Asn757Lys | |
| XM_024453488.1:c.2271C>A | XP_024309256.1:p.Asn757Lys | |
| XM_024453489.1:c.2271C>A | XP_024309257.1:p.Asn757Lys | |
| XR_001740131.2:n.2456C>A | ||
| XR_002959510.1:n.2332C>A | ||
| XR_002959511.1:n.2332C>A | ||
| XR_002959512.1:n.2332C>A | ||
| XR_002959513.1:n.2332C>A | ||
| XR_002959514.1:n.2332C>A | ||
| XR_002959515.1:n.2332C>A | ||
| XR_002959516.1:n.2332C>A | ||
| XR_002959517.1:n.2332C>A | ||
| NM_001349370.2:c.2271C>A | NP_001336299.1:p.Asn757Lys | |
| NR_146158.2:n.2592C>A | ||
| NM_001349370.3:c.2271C>A | NP_001336299.1:p.Asn757Lys | |
| NM_014159.7:c.2403C>A MANE Select | NP_054878.5:p.Asn801Lys | |
| NR_146158.3:n.2592C>A |