Linked Data
dbSNP Id:
rs762972799
ExAC:
17:65124925 G / A
gnomAD v2:
17-65124925-G-A
gnomAD v3:
17-67128809-G-A
gnomAD v4:
17-67128809-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.67128809G>A , CM000679.2:g.67128809G>A | GRCh38 |
| NC_000017.10:g.65124925G>A , CM000679.1:g.65124925G>A | GRCh37 |
| NC_000017.9:g.62555387G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358691.10:c.3229C>T MANE Select | ENSP00000351524.5:p.Leu1077= | |
| ENST00000358691.9:c.3229C>T | ENSP00000351524.5:p.Leu1077= | |
| ENST00000579953.5:c.3232C>T | ENSP00000463727.1:p.Leu1078= | |
| ENST00000580168.5:c.3232C>T | ENSP00000464512.1:p.Leu1078= | |
| NM_014877.3:c.3229C>T | NP_055692.2:p.Leu1077= | |
| XM_005257888.3:c.3310C>T | XP_005257945.1:p.Leu1104= | |
| XM_005257889.3:c.3232C>T | XP_005257946.1:p.Leu1078= | |
| XM_005257890.3:c.3208C>T | XP_005257947.1:p.Leu1070= | |
| XM_006722214.2:c.3313C>T | XP_006722277.1:p.Leu1105= | |
| XM_006722215.2:c.2608C>T | XP_006722278.1:p.Leu870= | |
| XM_006722216.2:c.2137C>T | XP_006722279.1:p.Leu713= | |
| XM_011525544.1:c.3313C>T | XP_011523846.1:p.Leu1105= | |
| XM_011525545.1:c.3313C>T | XP_011523847.1:p.Leu1105= | |
| XR_934629.1:n.3304C>T | ||
| NM_001330447.1:c.3232C>T | NP_001317376.1:p.Leu1078= | |
| XM_005257888.5:c.3310C>T | XP_005257945.1:p.Leu1104= | |
| XM_006722214.4:c.3313C>T | XP_006722277.1:p.Leu1105= | |
| XM_006722215.3:c.2608C>T | XP_006722278.1:p.Leu870= | |
| XM_006722216.3:c.2137C>T | XP_006722279.1:p.Leu713= | |
| XM_011525544.2:c.3313C>T | XP_011523846.1:p.Leu1105= | |
| XM_017025477.2:c.2524C>T | XP_016880966.1:p.Leu842= | |
| XM_017025478.1:c.2056C>T | XP_016880967.1:p.Leu686= | |
| XR_001752712.2:n.3404C>T | ||
| XR_001752713.2:n.3256C>T | ||
| XR_001752714.2:n.3172C>T | ||
| NM_014877.4:c.3229C>T MANE Select | NP_055692.3:p.Leu1077= | |
| NM_001330447.2:c.3232C>T | NP_001317376.2:p.Leu1078= |