Linked Data
dbSNP Id:
rs2032672
ExAC:
Y:21893881 A / C
gnomAD v2:
Y-21893881-A-C
gnomAD v3:
Y-19731995-A-C
gnomAD v4:
Y-19731995-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19731995A>C , CM000686.2:g.19731995A>C | GRCh38 |
| NC_000024.9:g.21893881A>C , CM000686.1:g.21893881A>C | GRCh37 |
| NC_000024.8:g.20353269A>C | NCBI36 |
| NG_032920.1:g.17945T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317961.9:c.1212+51T>G MANE Select | ENSP00000322408.4:n.1212+51T>G | |
| ENST00000317961.8:c.1212+51T>G | ENSP00000322408.4:n.1212+51T>G | |
| ENST00000382806.6:c.1041+51T>G | ENSP00000372256.2:n.1041+51T>G | |
| ENST00000440077.5:c.1089+51T>G | ENSP00000398543.1:n.1089+51T>G | |
| ENST00000447300.1:c.1077+51T>G | ENSP00000416377.1:n.1077+51T>G | |
| ENST00000541639.5:c.1212+51T>G | ENSP00000444293.1:n.1212+51T>G | |
| NM_001146705.1:c.1212+51T>G | NP_001140177.1:n.1212+51T>G | |
| NM_001146706.1:c.1041+51T>G | NP_001140178.1:n.1041+51T>G | |
| NM_004653.4:c.1212+51T>G | NP_004644.2:n.1212+51T>G | |
| XM_005262560.1:c.1077+51T>G | XP_005262617.1:n.1077+51T>G | |
| XM_005262561.1:c.1212+51T>G | XP_005262618.1:n.1212+51T>G | |
| XM_005262562.2:c.1212+51T>G | XP_005262619.1:n.1212+51T>G | |
| XM_011531468.1:c.1212+51T>G | XP_011529770.1:n.1212+51T>G | |
| XR_244571.2:n.1500+51T>G | ||
| XR_430568.2:n.1500+51T>G | ||
| XR_938609.1:n.1500+51T>G | ||
| XR_938610.1:n.1500+51T>G | ||
| XM_005262560.3:c.1077+51T>G | XP_005262617.1:n.1077+51T>G | |
| XM_005262561.3:c.1212+51T>G | XP_005262618.1:n.1212+51T>G | |
| XM_011531468.3:c.1212+51T>G | XP_011529770.1:n.1212+51T>G | |
| XM_024452495.1:c.-906+51T>G | XP_024308263.1:n.-906+51T>G | |
| XR_001756009.2:n.1499+51T>G | ||
| XR_001756010.2:n.1499+51T>G | ||
| XR_001756011.2:n.1364+51T>G | ||
| XR_001756012.2:n.1499+51T>G | ||
| XR_001756013.2:n.1499+51T>G | ||
| XR_002958832.1:n.1499+51T>G | ||
| XR_002958833.1:n.1499+51T>G | ||
| XR_002958834.1:n.1499+51T>G | ||
| XR_002958835.1:n.1499+51T>G | ||
| XR_002958836.1:n.1499+51T>G | ||
| XR_002958837.1:n.1499+51T>G | ||
| XR_244571.4:n.1499+51T>G | ||
| XR_430568.4:n.1499+51T>G | ||
| NM_001146706.2:c.1041+51T>G | NP_001140178.1:n.1041+51T>G | |
| NM_004653.5:c.1212+51T>G MANE Select | NP_004644.2:n.1212+51T>G | |
| NM_001146705.2:c.1212+51T>G | NP_001140177.1:n.1212+51T>G |