Linked Data
dbSNP Id:
rs766975894
ExAC:
9:140695323 C / T
gnomAD v2:
9-140695323-C-T
gnomAD v3:
9-137800871-C-T
gnomAD v4:
9-137800871-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137800871C>T , CM000671.2:g.137800871C>T | GRCh38 |
| NC_000009.11:g.140695323C>T , CM000671.1:g.140695323C>T | GRCh37 |
| NC_000009.10:g.139815144C>T | NCBI36 |
| NG_011776.1:g.186880C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2608-9C>T MANE Select | ENSP00000417980.1:n.2608-9C>T | |
| ENST00000636027.1:c.2494-9C>T | ENSP00000489961.1:n.2494-9C>T | |
| ENST00000637161.1:c.2515-9C>T | ENSP00000490328.1:n.2515-9C>T | |
| ENST00000637261.1:c.2648-9C>T | ENSP00000490815.1:n.2648-9C>T | |
| ENST00000637891.1:c.502-9C>T | ENSP00000490907.1:n.502-9C>T | |
| ENST00000637949.1:c.286-9C>T | ENSP00000489786.1:n.286-9C>T | |
| ENST00000460843.5:c.2608-9C>T | ENSP00000417980.1:n.2608-9C>T | |
| ENST00000462942.3:c.1465-9C>T | ENSP00000436107.1:n.1465-9C>T | |
| ENST00000482340.5:c.178-9C>T | ENSP00000486748.1:n.178-9C>T | |
| ENST00000486164.5:c.186-9C>T | ||
| ENST00000488242.2:n.134-9C>T | ||
| ENST00000493484.5:c.178-9C>T | ENSP00000486503.1:n.178-9C>T | |
| NM_024757.4:c.2608-9C>T | NP_079033.4:n.2608-9C>T | |
| XM_005266105.3:c.2599-9C>T | XP_005266162.1:n.2599-9C>T | |
| XM_005266110.1:c.2515-9C>T | XP_005266167.1:n.2515-9C>T | |
| XM_006717288.2:c.2590-9C>T | XP_006717351.1:n.2590-9C>T | |
| XM_011519021.1:c.2617-9C>T | XP_011517323.1:n.2617-9C>T | |
| XM_011519022.1:c.2614-9C>T | XP_011517324.1:n.2614-9C>T | |
| XM_011519023.1:c.2596-9C>T | XP_011517325.1:n.2596-9C>T | |
| XM_011519024.1:c.2539-9C>T | XP_011517326.1:n.2539-9C>T | |
| XM_011519025.1:c.2515-9C>T | XP_011517327.1:n.2515-9C>T | |
| XM_011519026.1:c.2473-9C>T | XP_011517328.1:n.2473-9C>T | |
| XM_011519027.1:c.2617-9C>T | XP_011517329.1:n.2617-9C>T | |
| XM_011519029.1:c.1039-9C>T | XP_011517331.1:n.1039-9C>T | |
| XM_011519030.1:c.391-9C>T | XP_011517332.1:n.391-9C>T | |
| XM_011519031.1:c.178-9C>T | XP_011517333.1:n.178-9C>T | |
| XM_011519032.1:c.178-9C>T | XP_011517334.1:n.178-9C>T | |
| XM_011519033.1:c.2452-9C>T | XP_011517335.1:n.2452-9C>T | |
| NM_001354263.1:c.2587-9C>T | NP_001341192.1:n.2587-9C>T | |
| XM_005266105.5:c.2599-9C>T | XP_005266162.1:n.2599-9C>T | |
| XM_011519021.3:c.2617-9C>T | XP_011517323.1:n.2617-9C>T | |
| XM_011519022.3:c.2614-9C>T | XP_011517324.1:n.2614-9C>T | |
| XM_011519023.3:c.2596-9C>T | XP_011517325.1:n.2596-9C>T | |
| XM_011519029.3:c.1039-9C>T | XP_011517331.1:n.1039-9C>T | |
| XM_011519030.3:c.391-9C>T | XP_011517332.1:n.391-9C>T | |
| XM_017015134.1:c.2593-9C>T | XP_016870623.1:n.2593-9C>T | |
| XM_017015136.2:c.2509-9C>T | XP_016870625.1:n.2509-9C>T | |
| XM_017015137.1:c.2494-9C>T | XP_016870626.1:n.2494-9C>T | |
| XM_017015138.1:c.2494-9C>T | XP_016870627.1:n.2494-9C>T | |
| XM_024447674.1:c.2437-9C>T | XP_024303442.1:n.2437-9C>T | |
| XM_024447675.1:c.2371-9C>T | XP_024303443.1:n.2371-9C>T | |
| XM_024447676.1:c.1732-9C>T | XP_024303444.1:n.1732-9C>T | |
| XM_024447677.1:c.1732-9C>T | XP_024303445.1:n.1732-9C>T | |
| XM_024447678.1:c.2515-9C>T | XP_024303446.1:n.2515-9C>T | |
| XM_024447680.1:c.2350-9C>T | XP_024303448.1:n.2350-9C>T | |
| NM_024757.5:c.2608-9C>T MANE Select | NP_079033.4:n.2608-9C>T | |
| NM_001354263.2:c.2587-9C>T | NP_001341192.1:n.2587-9C>T |