Linked Data
dbSNP Id:
rs988056034
gnomAD v2:
1-17322258-C-G
gnomAD v3:
1-16995763-C-G
gnomAD v4:
1-16995763-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16995763C>G , CM000663.2:g.16995763C>G | GRCh38 |
| NC_000001.10:g.17322258C>G , CM000663.1:g.17322258C>G | GRCh37 |
| NC_000001.9:g.17194845C>G | NCBI36 |
| NG_009054.1:g.21166G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.1542+213G>C MANE Select | ENSP00000327214.8:n.1542+213G>C | |
| ENST00000326735.12:c.1542+213G>C | ENSP00000327214.8:n.1542+213G>C | |
| ENST00000341676.9:c.1527+213G>C | ENSP00000341115.5:n.1527+213G>C | |
| ENST00000452699.5:c.1527+213G>C | ENSP00000413307.1:n.1527+213G>C | |
| ENST00000463860.5:n.1363G>C | ||
| ENST00000503552.1:c.219+213G>C | ENSP00000421126.1:n.219+213G>C | |
| NM_001141973.2:c.1527+213G>C | NP_001135445.1:n.1527+213G>C | |
| NM_001141974.2:c.1527+213G>C | NP_001135446.1:n.1527+213G>C | |
| NM_022089.3:c.1542+213G>C | NP_071372.1:n.1542+213G>C | |
| XM_005245809.1:c.1542+213G>C | XP_005245866.1:n.1542+213G>C | |
| XM_005245810.1:c.1539+213G>C | XP_005245867.1:n.1539+213G>C | |
| XM_005245811.1:c.1527+213G>C | XP_005245868.1:n.1527+213G>C | |
| XM_005245812.1:c.1515+213G>C | XP_005245869.1:n.1515+213G>C | |
| XM_005245813.1:c.1542+213G>C | XP_005245870.1:n.1542+213G>C | |
| XM_005245815.1:c.1542+213G>C | XP_005245872.1:n.1542+213G>C | |
| XM_006710512.1:c.1524+213G>C | XP_006710575.1:n.1524+213G>C | |
| XM_006710513.1:c.1500+213G>C | XP_006710576.1:n.1500+213G>C | |
| XM_011541128.1:c.1527+228G>C | XP_011539430.1:n.1527+228G>C | |
| XM_011541129.1:c.1542+213G>C | XP_011539431.1:n.1542+213G>C | |
| XM_017000844.1:c.1527+228G>C | XP_016856333.1:n.1527+228G>C | |
| XM_017000845.1:c.1524+213G>C | XP_016856334.1:n.1524+213G>C | |
| XM_017000846.1:c.1500+213G>C | XP_016856335.1:n.1500+213G>C | |
| XM_017000847.1:c.1497+228G>C | XP_016856336.1:n.1497+228G>C | |
| XM_017000848.1:c.1542+213G>C | XP_016856337.1:n.1542+213G>C | |
| XM_017000849.1:c.1527+213G>C | XP_016856338.1:n.1527+213G>C | |
| XM_017000850.1:c.1542+213G>C | XP_016856339.1:n.1542+213G>C | |
| NM_022089.4:c.1542+213G>C MANE Select | NP_071372.1:n.1542+213G>C | |
| NM_001141973.3:c.1527+213G>C | NP_001135445.1:n.1527+213G>C | |
| NM_001141974.3:c.1527+213G>C | NP_001135446.1:n.1527+213G>C |