Linked Data
ClinVar Variation Id:
127523
ClinVar RCV Id:
RCV000115331
RCV000122945
RCV000212398
RCV000412396
RCV000761151
RCV001001912
RCV001292944
RCV001535568
RCV003444104
RCV003891607
dbSNP Id:
rs199907548
ExAC:
9:21974681 A / G
gnomAD v2:
9-21974681-A-G
gnomAD v3:
9-21974682-A-G
gnomAD v4:
9-21974682-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21974682A>G , CM000671.2:g.21974682A>G | GRCh38 |
| NC_000009.11:g.21974681A>G , CM000671.1:g.21974681A>G | GRCh37 |
| NC_000009.10:g.21964681A>G | NCBI36 |
| NG_007485.1:g.24810T>C , LRG_11:g.24810T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304494.10:c.146T>C MANE Select | ENSP00000307101.5:p.Ile49Thr | |
| ENST00000404796.3:c.348-54751A>G | ENSP00000385916.2:n.348-54751A>G | |
| ENST00000579755.2:c.194-3474T>C MANE Plus Clinical | ENSP00000462950.1:n.194-3474T>C | |
| ENST00000304494.9:c.146T>C | ENSP00000307101.5:p.Ile49Thr | |
| ENST00000361570.4:c.194-3474T>C | ENSP00000355153.4:n.194-3474T>C | |
| ENST00000380151.3:c.146T>C | ENSP00000369496.3:p.Ile49Thr | |
| ENST00000404796.2:c.348-54751A>G | ENSP00000385916.2:n.348-54751A>G | |
| ENST00000494262.5:c.-3-3474T>C | ENSP00000464952.1:n.-3-3474T>C | |
| ENST00000498124.1:c.146T>C | ENSP00000418915.1:p.Ile49Thr | |
| ENST00000498628.6:c.-3-3474T>C | ENSP00000467857.1:n.-3-3474T>C | |
| ENST00000530628.2:c.194-3474T>C | ENSP00000432664.2:n.194-3474T>C | |
| ENST00000579122.1:c.146T>C | ENSP00000464202.1:p.Ile49Thr | |
| ENST00000579755.1:c.194-3474T>C | ENSP00000462950.1:n.194-3474T>C | |
| NM_000077.4:c.146T>C , LRG_11t1:c.146T>C | NP_000068.1:p.Ile49Thr | |
| NM_001195132.1:c.146T>C | NP_001182061.1:p.Ile49Thr | |
| NM_058195.3:c.194-3474T>C , LRG_11t2:c.194-3474T>C | NP_478102.2:n.194-3474T>C | |
| NM_058197.4:c.146T>C | NP_478104.2:p.Ile49Thr | |
| XM_011517675.1:c.146T>C | XP_011515977.1:p.Ile49Thr | |
| XM_011517676.1:c.146T>C | XP_011515978.1:p.Ile49Thr | |
| XM_011517679.1:c.-3-3474T>C | XP_011515981.1:n.-3-3474T>C | |
| XR_929159.1:n.547T>C | ||
| XR_929161.1:n.341-3474T>C | ||
| XR_929162.1:n.341-3474T>C | ||
| XR_929163.1:n.290-3474T>C | ||
| NM_001363763.1:c.-3-3474T>C | NP_001350692.1:n.-3-3474T>C | |
| XM_011517675.2:c.146T>C | XP_011515977.1:p.Ile49Thr | |
| XM_011517676.2:c.146T>C | XP_011515978.1:p.Ile49Thr | |
| XR_929159.2:n.476T>C | ||
| NM_001363763.2:c.-3-3474T>C | NP_001350692.1:n.-3-3474T>C | |
| NM_000077.5:c.146T>C MANE Select | NP_000068.1:p.Ile49Thr | |
| NM_001195132.2:c.146T>C | NP_001182061.1:p.Ile49Thr | |
| NM_058195.4:c.194-3474T>C MANE Plus Clinical | NP_478102.2:n.194-3474T>C | |
| NM_058197.5:c.146T>C | NP_478104.2:p.Ile49Thr |