gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45515014 (NFE)
Genomes Max Group AF
0.45515014 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89761420A>G , CM000666.2:g.89761420A>G | GRCh38 |
| NC_000004.11:g.90682571A>G , CM000666.1:g.90682571A>G | GRCh37 |
| NC_000004.10:g.90901594A>G | NCBI36 |
| NG_011851.1:g.81877T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394991.8:c.307-32143T>C MANE Select | ENSP00000378442.4:n.307-32143T>C | |
| ENST00000673718.1:c.307-32143T>C | ENSP00000500990.1:n.307-32143T>C | |
| ENST00000673766.1:n.561+9977T>C | ||
| ENST00000673902.1:c.307-32143T>C | ENSP00000501102.1:n.307-32143T>C | |
| ENST00000674129.1:c.307-2127T>C | ENSP00000501269.1:n.307-2127T>C | |
| ENST00000336904.7:c.307-32143T>C | ENSP00000338345.3:n.307-32143T>C | |
| ENST00000345009.8:c.307-34760T>C | ENSP00000343683.4:n.307-34760T>C | |
| ENST00000394986.5:c.307-32143T>C | ENSP00000378437.1:n.307-32143T>C | |
| ENST00000394989.6:c.265-32143T>C | ENSP00000378440.2:n.265-32143T>C | |
| ENST00000394991.7:c.307-32143T>C | ENSP00000378442.3:n.307-32143T>C | |
| ENST00000420646.6:c.307-34760T>C | ENSP00000396241.2:n.307-34760T>C | |
| ENST00000505199.5:c.265-32143T>C | ENSP00000421485.1:n.265-32143T>C | |
| ENST00000506244.5:c.307-32143T>C | ENSP00000422238.1:n.307-32143T>C | |
| ENST00000508895.5:c.307-32143T>C | ENSP00000426955.1:n.307-32143T>C | |
| ENST00000611107.1:c.265-34760T>C | ENSP00000479604.1:n.265-34760T>C | |
| ENST00000618500.4:c.265-32143T>C | ENSP00000484044.1:n.265-32143T>C | |
| NM_000345.3:c.307-32143T>C | NP_000336.1:n.307-32143T>C | |
| NM_001146054.1:c.307-32143T>C | NP_001139526.1:n.307-32143T>C | |
| NM_001146055.1:c.307-32143T>C | NP_001139527.1:n.307-32143T>C | |
| NM_007308.2:c.307-34760T>C | NP_009292.1:n.307-34760T>C | |
| XM_011532208.1:c.307-32143T>C | XP_011530510.1:n.307-32143T>C | |
| XM_011532208.2:c.307-32143T>C | XP_011530510.1:n.307-32143T>C | |
| XM_017008562.1:c.307-32143T>C | XP_016864051.1:n.307-32143T>C | |
| XM_017008563.1:c.307-32143T>C | XP_016864052.1:n.307-32143T>C | |
| NM_000345.4:c.307-32143T>C MANE Select | NP_000336.1:n.307-32143T>C | |
| NM_001146054.2:c.307-32143T>C | NP_001139526.1:n.307-32143T>C | |
| NM_001146055.2:c.307-32143T>C | NP_001139527.1:n.307-32143T>C | |
| NM_001375285.1:c.307-32143T>C | NP_001362214.1:n.307-32143T>C | |
| NM_001375286.1:c.307-32143T>C | NP_001362215.1:n.307-32143T>C | |
| NM_001375287.1:c.307-32143T>C | NP_001362216.1:n.307-32143T>C | |
| NM_001375288.1:c.307-32143T>C | NP_001362217.1:n.307-32143T>C | |
| NM_001375290.1:c.162+9977T>C | NP_001362219.1:n.162+9977T>C | |
| NR_164674.1:n.385-32143T>C | ||
| NR_164675.1:n.532-32143T>C | ||
| NR_164676.1:n.605-32143T>C | ||
| NM_007308.3:c.307-34760T>C | NP_009292.1:n.307-34760T>C |