Linked Data
ClinVar Variation Id:
9423
ClinVar RCV Id:
RCV000010030
RCV000409228
RCV000494082
RCV000545232
RCV001800291
RCV002496319
RCV003473079
dbSNP Id:
rs104894099
ExAC:
9:21971182 A / C
gnomAD v2:
9-21971182-A-C
gnomAD v4:
9-21971183-A-C
COSMIC:
COSM13818
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21971183A>C , CM000671.2:g.21971183A>C | GRCh38 |
| NC_000009.11:g.21971182A>C , CM000671.1:g.21971182A>C | GRCh37 |
| NC_000009.10:g.21961182A>C | NCBI36 |
| NG_007485.1:g.28309T>G , LRG_11:g.28309T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304494.10:c.176T>G MANE Select | ENSP00000307101.5:p.Val59Gly | |
| ENST00000404796.3:c.348-58250A>C | ENSP00000385916.2:n.348-58250A>C | |
| ENST00000579755.2:c.219T>G MANE Plus Clinical | ENSP00000462950.1:p.Ser73Arg | |
| ENST00000304494.9:c.176T>G | ENSP00000307101.5:p.Val59Gly | |
| ENST00000361570.4:c.219T>G | ENSP00000355153.4:p.Ser73Arg | |
| ENST00000380150.2:n.150T>G | ||
| ENST00000380151.3:c.450T>G | ENSP00000369496.3:n.450T>G | |
| ENST00000404796.2:c.348-58250A>C | ENSP00000385916.2:n.348-58250A>C | |
| ENST00000479692.2:c.23T>G | ENSP00000466887.1:p.Val8Gly | |
| ENST00000494262.5:c.23T>G | ENSP00000464952.1:p.Val8Gly | |
| ENST00000497750.1:c.23T>G | ENSP00000468510.1:p.Val8Gly | |
| ENST00000498124.1:c.176T>G | ENSP00000418915.1:p.Val59Gly | |
| ENST00000498628.6:c.23T>G | ENSP00000467857.1:p.Val8Gly | |
| ENST00000530628.2:c.219T>G | ENSP00000432664.2:p.Ser73Arg | |
| ENST00000578845.2:c.23T>G | ENSP00000467390.1:p.Val8Gly | |
| ENST00000579122.1:c.176T>G | ENSP00000464202.1:p.Val59Gly | |
| ENST00000579755.1:c.219T>G | ENSP00000462950.1:p.Ser73Arg | |
| NM_000077.4:c.176T>G , LRG_11t1:c.176T>G | NP_000068.1:p.Val59Gly | |
| NM_001195132.1:c.176T>G | NP_001182061.1:p.Val59Gly | |
| NM_058195.3:c.219T>G , LRG_11t2:c.219T>G | NP_478102.2:p.Ser73Arg | |
| NM_058197.4:c.450T>G | NP_478104.2:n.450T>G | |
| XM_005251343.1:c.23T>G | XP_005251400.1:p.Val8Gly | |
| XM_011517675.1:c.176T>G | XP_011515977.1:p.Val59Gly | |
| XM_011517676.1:c.176T>G | XP_011515978.1:p.Val59Gly | |
| XM_011517679.1:c.23T>G | XP_011515981.1:p.Val8Gly | |
| XR_929159.1:n.577T>G | ||
| XR_929161.1:n.366T>G | ||
| XR_929162.1:n.366T>G | ||
| XR_929163.1:n.315T>G | ||
| XR_929164.1:n.98T>G | ||
| NM_001363763.1:c.23T>G | NP_001350692.1:p.Val8Gly | |
| XM_011517675.2:c.176T>G | XP_011515977.1:p.Val59Gly | |
| XM_011517676.2:c.176T>G | XP_011515978.1:p.Val59Gly | |
| XR_929159.2:n.506T>G | ||
| NM_001363763.2:c.23T>G | NP_001350692.1:p.Val8Gly | |
| NM_000077.5:c.176T>G MANE Select | NP_000068.1:p.Val59Gly | |
| NM_001195132.2:c.176T>G | NP_001182061.1:p.Val59Gly | |
| NM_058195.4:c.219T>G MANE Plus Clinical | NP_478102.2:p.Ser73Arg | |
| NM_058197.5:c.*99T>G | NP_478104.2:n.*99T>G |