Linked Data
dbSNP Id:
rs16936752
gnomAD v2:
9-96063690-T-G
gnomAD v3:
9-93301408-T-G
gnomAD v4:
9-93301408-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.93301408T>G , CM000671.2:g.93301408T>G | GRCh38 |
| NC_000009.11:g.96063690T>G , CM000671.1:g.96063690T>G | GRCh37 |
| NC_000009.10:g.95103511T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297954.9:c.6325+1259T>G | ENSP00000297954.4:n.6325+1259T>G | |
| ENST00000427277.7:c.6214+1259T>G MANE Select | ENSP00000411181.4:n.6214+1259T>G | |
| ENST00000432730.6:c.6214+1259T>G | ENSP00000415038.2:n.6214+1259T>G | |
| ENST00000297954.8:c.6325+1259T>G | ENSP00000297954.4:n.6325+1259T>G | |
| ENST00000395477.6:c.6214+1259T>G | ENSP00000378860.2:n.6214+1259T>G | |
| ENST00000411624.5:c.4733+3341T>G | ||
| ENST00000432730.5:c.6201+1259T>G | ||
| ENST00000448251.5:c.2604+1259T>G | ||
| ENST00000453718.2:c.1680+2147T>G | ||
| ENST00000474009.5:n.300+3341T>G | ||
| NM_001282394.1:c.6325+1259T>G | NP_001269323.1:n.6325+1259T>G | |
| NM_006648.3:c.6214+1259T>G | NP_006639.3:n.6214+1259T>G | |
| XM_005252137.2:c.6214+1259T>G | XP_005252194.1:n.6214+1259T>G | |
| XM_005252140.1:c.6214+1259T>G | XP_005252197.1:n.6214+1259T>G | |
| XM_005252141.1:c.6214+1259T>G | XP_005252198.1:n.6214+1259T>G | |
| XM_005252144.1:c.6214+1259T>G | XP_005252201.1:n.6214+1259T>G | |
| XM_011518926.1:c.6214+1259T>G | XP_011517228.1:n.6214+1259T>G | |
| XM_011518927.1:c.6211+1259T>G | XP_011517229.1:n.6211+1259T>G | |
| XM_011518928.1:c.6160+1259T>G | XP_011517230.1:n.6160+1259T>G | |
| XM_011518929.1:c.6115+2147T>G | XP_011517231.1:n.6115+2147T>G | |
| XM_011518930.1:c.6079+1259T>G | XP_011517232.1:n.6079+1259T>G | |
| XM_011518931.1:c.6115+2147T>G | XP_011517233.1:n.6115+2147T>G | |
| XM_011518932.1:c.6214+1259T>G | XP_011517234.1:n.6214+1259T>G | |
| XM_011518933.1:c.6058+1259T>G | XP_011517235.1:n.6058+1259T>G | |
| XM_011518934.1:c.6214+1259T>G | XP_011517236.1:n.6214+1259T>G | |
| XM_011518935.1:c.5923+3341T>G | XP_011517237.1:n.5923+3341T>G | |
| XM_011518936.1:c.5923+3341T>G | XP_011517238.1:n.5923+3341T>G | |
| XM_011518937.1:c.5569+1259T>G | XP_011517239.1:n.5569+1259T>G | |
| XM_011518938.1:c.5923+3341T>G | XP_011517240.1:n.5923+3341T>G | |
| XM_011518939.1:c.5482+1259T>G | XP_011517241.1:n.5482+1259T>G | |
| XM_011518940.1:c.5482+1259T>G | XP_011517242.1:n.5482+1259T>G | |
| XM_005252137.3:c.6214+1259T>G | XP_005252194.1:n.6214+1259T>G | |
| XM_005252140.2:c.6214+1259T>G | XP_005252197.1:n.6214+1259T>G | |
| XM_005252141.2:c.6214+1259T>G | XP_005252198.1:n.6214+1259T>G | |
| XM_005252144.2:c.6214+1259T>G | XP_005252201.1:n.6214+1259T>G | |
| XM_011518926.2:c.6214+1259T>G | XP_011517228.1:n.6214+1259T>G | |
| XM_011518927.2:c.6211+1259T>G | XP_011517229.1:n.6211+1259T>G | |
| XM_011518928.2:c.6160+1259T>G | XP_011517230.1:n.6160+1259T>G | |
| XM_011518929.2:c.6115+2147T>G | XP_011517231.1:n.6115+2147T>G | |
| XM_011518930.2:c.6079+1259T>G | XP_011517232.1:n.6079+1259T>G | |
| XM_011518931.2:c.6115+2147T>G | XP_011517233.1:n.6115+2147T>G | |
| XM_011518932.2:c.6214+1259T>G | XP_011517234.1:n.6214+1259T>G | |
| XM_011518935.2:c.5923+3341T>G | XP_011517237.1:n.5923+3341T>G | |
| XM_011518936.2:c.5923+3341T>G | XP_011517238.1:n.5923+3341T>G | |
| XM_011518937.3:c.5569+1259T>G | XP_011517239.1:n.5569+1259T>G | |
| XM_011518939.2:c.5482+1259T>G | XP_011517241.1:n.5482+1259T>G | |
| XM_011518940.2:c.5482+1259T>G | XP_011517242.1:n.5482+1259T>G | |
| XM_017015045.1:c.6211+1259T>G | XP_016870534.1:n.6211+1259T>G | |
| XM_017015046.1:c.6076+1259T>G | XP_016870535.1:n.6076+1259T>G | |
| XM_017015047.1:c.6160+1259T>G | XP_016870536.1:n.6160+1259T>G | |
| XM_017015048.1:c.6157+1259T>G | XP_016870537.1:n.6157+1259T>G | |
| XM_017015049.1:c.6115+2147T>G | XP_016870538.1:n.6115+2147T>G | |
| XM_017015050.1:c.6112+2147T>G | XP_016870539.1:n.6112+2147T>G | |
| XM_017015051.1:c.6079+1259T>G | XP_016870540.1:n.6079+1259T>G | |
| XM_017015052.1:c.6061+2147T>G | XP_016870541.1:n.6061+2147T>G | |
| XM_017015053.1:c.6058+2147T>G | XP_016870542.1:n.6058+2147T>G | |
| XM_017015054.1:c.5923+3341T>G | XP_016870543.1:n.5923+3341T>G | |
| XM_017015055.1:c.5920+3341T>G | XP_016870544.1:n.5920+3341T>G | |
| XR_001746367.1:n.6446+1259T>G | ||
| XR_002956803.1:n.6347+2147T>G | ||
| XR_002956804.1:n.7705T>G | ||
| NM_001282394.3:c.6325+1259T>G | NP_001269323.1:n.6325+1259T>G | |
| NM_006648.4:c.6214+1259T>G MANE Select | NP_006639.3:n.6214+1259T>G |