Linked Data
ClinVar Variation Id:
309289
ClinVar RCV Id:
RCV000352983
dbSNP Id:
rs17125172
ExAC:
12:51380893 T / G
gnomAD v2:
12-51380893-T-G
gnomAD v3:
12-50987110-T-G
gnomAD v4:
12-50987110-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50987110T>G , CM000674.2:g.50987110T>G | GRCh38 |
| NC_000012.11:g.51380893T>G , CM000674.1:g.51380893T>G | GRCh37 |
| NC_000012.10:g.49667160T>G | NCBI36 |
| NG_021139.1:g.46166A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394904.9:c.*1215A>C | ENSP00000378364.3:n.*1215A>C | |
| ENST00000547688.7:c.1716+1272A>C | ENSP00000449200.2:n.1716+1272A>C | |
| ENST00000642227.1:c.*2486A>C | ENSP00000494696.1:n.*2486A>C | |
| ENST00000643123.1:n.2065A>C | ||
| ENST00000643884.1:c.*25+1190A>C | ENSP00000493633.1:n.*25+1190A>C | |
| ENST00000644495.1:c.1629+1272A>C | ENSP00000494107.1:n.1629+1272A>C | |
| ENST00000646264.1:c.1311+1272A>C | ||
| ENST00000646740.1:c.*2187A>C | ENSP00000494001.1:n.*2187A>C | |
| ENST00000262051.11:c.1629+1272A>C | ENSP00000262051.7:n.1629+1272A>C | |
| ENST00000262052.9:c.*1215A>C MANE Select | ENSP00000262052.5:n.*1215A>C | |
| ENST00000394904.7:c.*1215A>C | ENSP00000378364.3:n.*1215A>C | |
| ENST00000546636.5:c.1629+1272A>C | ENSP00000449008.1:n.1629+1272A>C | |
| ENST00000547198.5:c.1629+1272A>C | ENSP00000446769.1:n.1629+1272A>C | |
| ENST00000550782.5:n.2373A>C | ||
| ENST00000551215.5:c.302+1272A>C | ||
| NM_000617.2:c.*1215A>C | NP_000608.1:n.*1215A>C | |
| NM_001174125.1:c.*1215A>C | NP_001167596.1:n.*1215A>C | |
| NM_001174126.1:c.1629+1272A>C | NP_001167597.1:n.1629+1272A>C | |
| NM_001174127.1:c.1629+1272A>C | NP_001167598.1:n.1629+1272A>C | |
| NM_001174128.1:c.*1215A>C | NP_001167599.1:n.*1215A>C | |
| NM_001174129.1:c.*1215A>C | NP_001167600.1:n.*1215A>C | |
| NM_001174130.1:c.*1215A>C | NP_001167601.1:n.*1215A>C | |
| NR_033421.1:n.2966A>C | ||
| NR_033422.1:n.1769+1272A>C | ||
| XM_005268911.2:c.1716+1272A>C | XP_005268968.1:n.1716+1272A>C | |
| XM_005268912.3:c.1617+1272A>C | XP_005268969.1:n.1617+1272A>C | |
| XM_005268913.2:c.1518+1272A>C | XP_005268970.1:n.1518+1272A>C | |
| XM_005268914.2:c.1518+1272A>C | XP_005268971.1:n.1518+1272A>C | |
| XM_011538404.1:c.1629+1272A>C | XP_011536706.1:n.1629+1272A>C | |
| XM_011538405.1:c.1629+1272A>C | XP_011536707.1:n.1629+1272A>C | |
| XM_011538406.1:c.1392+1272A>C | XP_011536708.1:n.1392+1272A>C | |
| XR_429104.1:n.1826+1272A>C | ||
| XR_944555.1:n.1826+1272A>C | ||
| XM_005268911.3:c.1716+1272A>C | XP_005268968.1:n.1716+1272A>C | |
| XM_005268912.5:c.1617+1272A>C | XP_005268969.1:n.1617+1272A>C | |
| XM_011538404.3:c.1629+1272A>C | XP_011536706.1:n.1629+1272A>C | |
| XM_011538405.3:c.1629+1272A>C | XP_011536707.1:n.1629+1272A>C | |
| XM_017019355.2:c.1629+1272A>C | XP_016874844.1:n.1629+1272A>C | |
| XM_017019356.2:c.1392+1272A>C | XP_016874845.1:n.1392+1272A>C | |
| XR_001748720.1:n.1826+1272A>C | ||
| XR_001748721.2:n.1744+1272A>C | ||
| XR_001748722.2:n.1752+1272A>C | ||
| XR_001748723.2:n.1752+1272A>C | ||
| NM_000617.3:c.*1215A>C MANE Select | NP_000608.1:n.*1215A>C | |
| NM_001174125.2:c.*1215A>C | NP_001167596.1:n.*1215A>C | |
| NM_001174128.2:c.*1215A>C | NP_001167599.1:n.*1215A>C | |
| NM_001174130.2:c.*1215A>C | NP_001167601.1:n.*1215A>C | |
| NR_033421.2:n.2934A>C | ||
| NR_033422.2:n.1737+1272A>C | ||
| NM_001174126.2:c.1629+1272A>C | NP_001167597.1:n.1629+1272A>C | |
| NM_001174127.2:c.1629+1272A>C | NP_001167598.1:n.1629+1272A>C | |
| NM_001379446.1:c.1716+1272A>C | NP_001366375.1:n.1716+1272A>C | |
| NM_001379447.1:c.1629+1272A>C | NP_001366376.1:n.1629+1272A>C | |
| NM_001379448.1:c.1617+1272A>C | NP_001366377.1:n.1617+1272A>C | |
| NM_001379455.1:c.*1215A>C | NP_001366384.1:n.*1215A>C | |
| NR_166668.1:n.1742+1272A>C | ||
| NR_166669.1:n.1737+1272A>C | ||
| NR_166670.1:n.1742+1272A>C |